A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7327



Internal ID15205639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130125164..131553532hg38UCSC Ensembl
Outerchr2:130882737..132311105hg19UCSC Ensembl
Outerchr2:130599207..132027575hg18UCSC Ensembl
Outerchr2:130598967..132144837hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381428369
hg191428369
hg181428369
hg171545871
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4459, nssv4460
SamplesNA12878
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74A, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P2, GPR148, IMP4, LINC01120, LOC150776, LOC401010, LOC440910, LOC646743, MED15P9, MIR4784, MZT2A, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, RNU6-81P, SMPD4, TISP43, TUBA3D, TUBA3E, WTH3DI
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv7327
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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